Coeliac Disease
Genetic ? with environmental triggers
Autoimmune (tissuetransglutaminase antibodies)
gluten-sensitive enteropathy
1% prevalence (monozygotic twins 100%)
Prolonged breastfeeding is protective, early wheat introduction increases risk
?related to gluten exposure during rotavirus infection while mucosal is injured with ramped up immune response
Associated with autoimmune: thyroid, liver, pancreas, adrenal
Presentation
Serology
Jejunal Biopsy (mandatory for diagnosis)
Rx
Treat symptomatic, silent and latent but not potential
Lifelong strict adherance to gluten free diet (<20ppm)
Dietitian experienced with Coeliac
Treat nutritional deficiencies: Fe, Ca etc
Prognosis
risk of Non-Hodgkin and T-cell lymphoma increased with delayed Dx and poor compliance
Associations
type 1 diabetes, autoimmune thyroid disease, Addison disease, Sjögren syndrome, autoimmune cholangitis, autoimmune hepatitis, primary biliary cirrhosis, IgA nephropathy, alopecia, and dilated cardiomyopathy
Down, Turner, Williams
Autoimmune (tissuetransglutaminase antibodies)
gluten-sensitive enteropathy
- Gluten (a type of prolamin): wheat (gliadin, glutenin), barley (hordein), rye (secalin) (occasionally oats: avenin
1% prevalence (monozygotic twins 100%)
Prolonged breastfeeding is protective, early wheat introduction increases risk
?related to gluten exposure during rotavirus infection while mucosal is injured with ramped up immune response
Associated with autoimmune: thyroid, liver, pancreas, adrenal
Presentation
- Symptomatic
- Gastrointestinal: failure to thrive, chronic diarrhea, vomiting, abdominal distention, muscle wasting, anorexia, and irritability, constipation, rectal prolapse, or intussusception
- iron-deficiency anemia, unresponsive to iron therapy
- Osteoporosis
- short stature, endocrinopathies, arthritis and arthralgia, epilepsy with bilateral occipital calcifications, peripheral neuropathies, cardiomyopathy, chronic lung disease, isolated hypertransaminasemia, dental enamel hypoplasia, aphthous stomatitis, and alopecia
- Silent celiac disease: no symtpoms, picked up on screening, confirmed on histo
- Latent: previous positive histo, now normal
- Potential: positive serology, negative histo
Serology
- IgA tissuetransglutaminase: 96% sens, 96% spec (must be on gluten containing diet) (~90% in under 2yo)
- 10% of pt diagnoses prior to 2yo are IgA neg
- Must screen for IgA deficiency, associated with coeliac (10xprev) and creates false neg
- If IgA def - screen anti-endomysial (EMA) IgG and deaminated gliadin IgG
- If <2yo: deaminated gliadin IgG
- If neg serology and high suspicion still biops
- TTG IgA > EMA > antigliadin (not good enough to use anymore) (DGP may be best unter 2yo)
- HLA DQ2: (DQA1*05/DQB1*02)
- HLA DQ8 (DQA1*0301/DQB1*0302)
- 98% Neg predictive value ie <2% of coeliacs are neg for both
- 30% of normal pop have one of them
- ie useful to exclude if already on gluten free diet, not to diagnose
Jejunal Biopsy (mandatory for diagnosis)
- villous atrophy with hyperplasia of the crypts and abnormal surface epithelium (with adequate intake of gluten=3 g gluten/day ie 1 slice of bread/day for 6w) with full clinical remission after withdrawal of gluten from the diet
- The finding of circulating IgA celiac disease–associated antibodies at the time of diagnosis and their disappearance on a gluten-free diet adds weight to the diagnosis
- A control biopsy to verify the consequences of the gluten-free diet mandatory only in patients with an equivocal clinical response
- Gluten challenge if doubt about the initial diagnosis, eg no initial biopsy, or inadequate or atypical biopsy
Rx
Treat symptomatic, silent and latent but not potential
Lifelong strict adherance to gluten free diet (<20ppm)
Dietitian experienced with Coeliac
Treat nutritional deficiencies: Fe, Ca etc
Prognosis
risk of Non-Hodgkin and T-cell lymphoma increased with delayed Dx and poor compliance
Associations
type 1 diabetes, autoimmune thyroid disease, Addison disease, Sjögren syndrome, autoimmune cholangitis, autoimmune hepatitis, primary biliary cirrhosis, IgA nephropathy, alopecia, and dilated cardiomyopathy
Down, Turner, Williams